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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Aortic Aneurysm, Familial Abdominal 1
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Accession:DOID:9000654 term browser browse the term
Synonyms:exact_synonym: AAA1
 primary_id: MESH:C565230
 alt_id: OMIM:100070;   RDO:0007862;   RDO:0013932


show annotations for term's descendants           Sort by:
Aortic Aneurysm, Familial Abdominal 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 ClinVar PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      cardiovascular system disease 5408
        vascular disease 4008
          Aneurysm 250
            aortic aneurysm 215
              abdominal aortic aneurysm 71
                Aortic Aneurysm, Familial Abdominal 1 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      cardiovascular system disease 5408
        vascular disease 4008
          artery disease 2822
            aortic disease 791
              aortic aneurysm 215
                abdominal aortic aneurysm 71
                  Aortic Aneurysm, Familial Abdominal 1 1
paths to the root